Results 31 to 40 of about 1,003,750 (315)

Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importnace of Lp(a) [PDF]

, 2012
We carried out a genome-wide association study (GWAS) of LDL-c response to statin using data from participants in the Collaborative Atorvastatin Diabetes Study (CARDS; n = 1,156), the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT; n = 895), and the ...
Postmus, Iris, Colhoun, H.M., McKeigue, Paul M, Stanton, A.V., Trompet, S., Hyde, Craig, Colhoun, Helen M, Caulfield, M., Shields, Denis C., Hitman, Graham A, CARDS, Poulter, Neil, Shields, D.C., Sever, P., Chatterjee, Aurobindo, Trompet, Stella, Durrington, Paul N, Deshmukh, H.A., DeMicco, D.A., Calle, Roberto A., Hitman, Graham A., Neil, A., McKeigue, Paul M., Fuller, John H., Postmus, I., Hitman, G.A., DeMicco, David A., Johnson, T., ?, ?, Calle, Roberto A, Betteridge, D.J., Livingstone, Shona, Ford, Ian, McKeigue, P.M., Stanton, Alice V., Jukema, J.W., Johnson, Toby, Durrington, Paul N., Neil, Andrew, PROSPER Investigators, Livingstone, S., Jukema, J. Wouter, ASCOT, Colhoun, Helen, Ford, I., Sever, Peter, Fuller, J.H., Jukema, J Wouter, Caulfield, Mark, Fuller, John H, Chatterjee, A., Deshmukh, Harshal A, Calle, R.A., Hyde, C., Charlton-Menys, V., Poulter, N., Charlton-Menys, Valentine, DeMicco, David A, Betteridge, D John, McKeigue, Paul M.; id_orcid, Betteridge, D. John, Durrington, P.N., Colhoun, Helen M., Shields, Denis C, Deshmukh, Harshal A., Stanton, Alice V   +65 more
core   +1 more source

Beta-Ketothiolase Deficiency: A Comprehensive Review of Genetic Variants and Pathophysiology [PDF]

Annals of Child Neurology
Beta-ketothiolase deficiency (BKD) is a rare autosomal recessive disorder caused by mutations in the ACAT1 gene, also known as mitochondrial acetoacetyl-coenzyme A thiolase (MAT) deficiency.
Sohit Kashyap, Anil Kumar, Anita Choudhary, Ajay Kumar, Arvinder Wander, Anjana Munshi   +5 more
doaj   +1 more source

Genetic therapy for the nervous system [PDF]

Human Molecular Genetics, 2011
Genetic therapy is undergoing a renaissance with expansion of viral and synthetic vectors, use of oligonucleotides (RNA and DNA) and sequence-targeted regulatory molecules, as well as genetically modified cells, including induced pluripotent stem cells from the patients themselves. Several clinical trials for neurologic syndromes appear quite promising.
William J, Bowers, Xandra O, Breakefield, Miguel, Sena-Esteves   +2 more
openaire   +2 more sources

Cellular and genetic therapies for haemophilia [PDF]

Haemophilia, 2006
Summary.  Haemophilia continues to be a prime target for a variety of gene and cell‐based therapies. Pre‐clinical successes in both mouse and dog models of the disease have been documented with a variety of approaches over the past decade, and there have now been six small clinical trials of gene transfer in haemophilia.
Lillicrap, David, VandenDriessche, T., High, K.   +2 more
openaire   +2 more sources

A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]

Reviews in Clinical Medicine, 2021
Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia, Reza Jafarzadeh Esfehani, Reza Boostani, Mohammad Shariati, Ariane Sadr Nabavi   +4 more
doaj   +1 more source

Genetic therapies against HIV [PDF]

Nature Biotechnology, 2007
Highly active antiretroviral therapy prolongs the life of HIV-infected individuals, but it requires lifelong treatment and results in cumulative toxicities and viral-escape mutants. Gene therapy offers the promise of preventing progressive HIV infection by sustained interference with viral replication in the absence of chronic chemotherapy.
John J, Rossi, Carl H, June, Donald B, Kohn   +2 more
openaire   +2 more sources

Prospective genetic screening decreases the incidence of Abacavir hypersensitivity reactions in the Western Australian HIV cohort study

, 2005
Abacavir therapy is associated with significant drug hypersensitivity in ∼8% of recipients, with retrospective studies indicating a strong genetic association with the HLA-B*5701 allelle.
McKinnon, E., Martin, A., Nolan, D., Rauch, A, Almeida, C., McKinnon, E, Rauch, A., Martin, A, Almeida, C, Nolan, D, Mallal, Simon, Mallal, S.   +11 more
core   +1 more source

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis

BMC Medical Genomics, 2023
Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu, Liangpu Xu   +6 more
doaj   +1 more source

Impact of HIV-1 subtype and antiretroviral therapy on protease and reverse transcriptase genotype: Results of a global collaboration [PDF]

, 2005
Background The genetic differences among HIV-1 subtypes may be critical to clinical management and drug resistance surveillance as antiretroviral treatment is expanded to regions of the world where diverse non-subtype-B viruses predominate.Methods and ...
Wynhoven, B, Cane, P, Holguin, A, Pedro Cahn, Maria Belen Bouzas, Africa Holguin, Luis F Brigido, Sirivichayakul, S, Anne-Mieke Vandamme, Camacho, R, Efron, B, Koya Ariyoshi, Grossman, Z, Robert W Shafer, Shafer, RW, Bouzas, MB, Brian Wynhoven, Ricardo Camacho, Jonathan N Weber, Harrigan, PR, Ariyoshi, K, Ana Patricia Carvalho, Rosangela Rodrigues, Rudich, H, Candice Pillay, Soares, MA, Katzenstein, DA, Vandamme, AM, Clarke, J, Lynn Morris, Snoeck, J, Soriano, V, Rodrigues, R, Brigido, LF, Wataru Sugiura, Praphan Phanuphak, Kantor, R, Sugiura, W, John Clarke, Jonathan M Schapiro, Rami Kantor, David A Katzenstein, Carvalho, AP, P Richard Harrigan, Patricia Cane, Phanuphak, P, Brad Efron, Pillay, D, Pillay, C, Sunee Sirivichayakul, Joke Snoeck, Cahn, P, Hagit Rudich, Schapiro, JM, Morris, L, Zehava Grossman, Amilcar Tanuri, Tanuri, A, Weber, JN, Vincent Soriano, Deenan Pillay, Marcelo A Soares   +61 more
core   +1 more source

Genetic Diversity of the Legionella pneumophila dotA Gene Detected on Surfaces of Respiratory Therapy Equipment

, 2021
Legionellosis is a neglected disease due to the absence of well-defined clinical symptoms and difficulties in isolating the causal organism. Legionella spp.
Rajeshwari Vittal, Juliet Roshini Mohan Raj, Indrani Karunasagar, Ballamoole Krishna Kumar   +3 more
core   +1 more source